Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.D70A

KCNA2

401 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004974.4
p.D70A
c.209A>C
Surrounding Variants
3 papers
NM_004974.4
p.D70V
c.209A>T
1 paper
NM_004974.4
p.P71L
c.212C>T
2 papers
NM_004974.4
p.L72I
c.214C>A
1 paper
NM_004974.4
p.R73*
c.217C>T
1 paper
NM_004974.4
p.R73L
c.218G>T
2 papers
NM_004974.4
p.R73Q
c.218G>A
1 paper
NM_004974.4
p.M66delFs
c.196delT
1 paper
NM_004974.4
p.D61_R65delFs
c.182_194del13
1 paper
NM_004974.4
p.R65P
c.194G>C
1 paper
NM_004974.4
p.R65Q
c.194G>A
1 paper
NM_004974.4
p.E75A
c.224A>C
10 papers
NM_004974.4
p.R65*
c.193C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."